Sam Smith (@scolbysmith)
Activity by Sam Smith
ROCHESTER, Minn. ― Mayo Clinic announced today that Clifford Hudis, M.D., immediate past president of the American Society of Clinical Oncology (ASCO), will deliver the keynote address at Individualizing Medicine 2014: From Promise to Practice.
Individualizing Medicine 2014 is scheduled for Oct. 6–8, with optional workshops and sessions before and after the conference. Presentations will cover a wide range of topics, including cardiovascular disease, the role of genomics in the pharmacy, insurance and reimbursement issues, the use of deep sequencing for predictive medicine, and more. A complete schedule and list of speakers is available on the conference website. Focused concurrent sessions are also available.
Journalists: Lab b-roll and sound bites with Richard Weinshilboum, M.D., co-director, Individualizing Medicine Conference, are available in the downloads.
Startup company to offer next-generation sequencing-based pharmacogenomics interpretation
ROCHESTER, Minn. — Mayo Clinic and venture catalyst Invenshure announce the launch of Oneome, a genomics interpretation company that exports Mayo’s extensive pharmacogenomics knowledge in the form of concise, actionable reports to help providers anywhere deliver the right medication at the right time.
Oneome reports will focus on providing pharmacogenomically driven guidance for medications with high levels of evidence in medical literature. Financial terms of the agreement were not disclosed. Mayo’s collaboration with Oneome is led by the Mayo Clinic Center for Individualized Medicine.
“Our own genetic makeup can have a significant impact on how our bodies process and use prescription medication, which in turn affects whether or not a drug works the way our doctor intended,” says Oneome co-founder John Logan Black, M.D., a Mayo Clinic physician and co-director of the Personalized Genomics Laboratory in Mayo's Department of Laboratory Medicine and Pathology. “We have developed sophisticated decision algorithms that can help providers use genomic testing to get their prescriptions right the first time.” [...]
ROCHESTER, Minn. — A Mayo Clinic-led group of researchers has discovered three subgroups of a single type of non-Hodgkin lymphoma that have markedly different survival rates. These subgroups could not be differentiated by routine pathology but only with the aid of novel genetic tests, which the research team recommends giving to all patients with ALK-negative anaplastic large-cell lymphoma (ALCL). Findings are published in the journal Blood.
Journalists: Sound bites with Dr. Feldman are available in the downloads.
Patients whose lymphomas had TP63 rearrangements had only a 17 percent chance of living five years beyond diagnosis, compared to 90 percent of patients whose tumors had DUSP22 rearrangements. A third group of tumors, those with neither rearrangement, was associated with an intermediate survival rate. [...]
ROCHESTER, Minn. ― Recent modifications in recommendations regarding incidental findings (IFs) in genetic testing from the American College of Medical Genetics and Genomics (ACMG) depart from the college’s 2013 recommendations in favor of an individualized approach. Experts in the Bioethics Program of the Mayo Clinic Center for Individualized Medicine published a review of the updated 2014 recommendations in the journal Proceedings.
“The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs,” says Jennifer McCormick, Ph.D., M.P.P., who authored the review.
The 2013 recommendations embraced an all-or-nothing philosophy, which advised patients who did not want to be informed of some, or all, IFs to forgo whole exome or whole genome sequencing (WES/WGS), according to the review. In addition, the college originally instructed that laboratories “actively search” and notify patients of pathogenic variants in genes, which raised controversy regarding patient rights.
With the 2014 recommendations, patients have more autonomy to customize their WES/WGS results based on their comfort level with knowledge, other than the original reason to seek genetic testing, says Dr. McCormick.
"This is an important discussion, and the move toward greater autonomy is good for everyone ― both patients and physicians," says Dr. McCormick. "Medicine in general is moving toward more patient autonomy and shared decision making. Genomics and individualized medicine happen to be the starkest and least well-defined examples of this trend ― we have no best practices yet."
Much genomic analysis is meant to aid the patient in making medical decisions, sometimes in the distant future, and there are often far-reaching implications for family members, say Dr. McCormick and her co-authors. These factors combine to make this type of testing very personal, especially regarding incidental findings. For example, patients can decide before testing to filter their results for only one part of their genome. This step is important because it differentiates between single-gene testing and WES/WGS. Where single-gene testing is selective, whole exome/genome sequencing is comprehensive. [...]
ROCHESTER, Minn. — Tumor sequencing of several different lung cancers and their surrounding tissue complicates the prevailing theory of linear lung cancer progression and offers new insights for management of this deadly cancer, according to a new Mayo Clinic study. Sequencing results provide, for the first time, strong molecular evidence of progression from phenotypically indolent components to more aggressive disease and also show that both components can progress independently, even if they arise from the same precursor, according to the study. The paper appears online in Cancer Research.
“This study sheds light on potential changes in our understanding of both the molecular pathogenesis and best treatment of lung adenocarcinoma,” says George Vasmatzis, Ph.D., senior author of the study and co-director of the Biomarker Discovery Program in the Mayo Clinic Center for Individualized Medicine. “The heterogeneity of lung cancer tells us repeatedly that the natural history of tumors and the roads to progression vary among cases, and multiple models are possible in certain cancers.”
Lung cancer accounts for nearly 160,000 deaths every year in the United States, more than the next three most-common cancers combined, according to the American Lung Association. Treatment of early-stage cancers may be tailored according to the type of genomic alterations observed, says Dr. Vasmatzis. In some cases, this could mean less-aggressive treatment and periods of close observation, while other situations may call for more immediate interventions, such as surgery or radiation.
“As suggested by clinical studies demonstrating improved disease-free and overall survival for treatment of lesions containing components of adenocarcinoma in situ [noninvasive lung cancer], it may be that this represents a distinct clinical entity that can be treated less aggressively by either sub-lobar resection or even periods of watchful waiting with close imaging follow-up prior to any treatment,” says Dr. Vasmatzis. [...]
ROCHESTER, Minn., and SAN FRANCISCO — The Mayo Clinic Center for Individualized Medicine and Whole Biome today announced a collaboration to develop microbiome targeted diagnostic testing, beginning in Women’s Health, with a focus on preterm labor. Preterm birth is the most common cause of infant death and is the leading cause of long-term disability in children, according to the National Institutes of Health. Many preterm births may be delayed or prevented with microbiome-based testing and intervention, according to Mayo Clinic experts.
“Understanding the microbiome, and translating that understanding into enhanced patient care is a major goal within the Center for Individualized Medicine,” says Heidi Nelson, M.D., director of the center’s Microbiome Program. “Our early work suggests the microbiome may play a significant role in triggering preterm labor, and we are excited to take these early results into clinical trials with Whole Biome’s analytics platform.”
“This collaboration is bringing together the clinical expertise of Mayo Clinic with our innovative diagnostic tools,” says Colleen Cutcliffe, CEO of Whole Biome. “Together, we plan to transform affordable and detailed microbiome information into tools that will improve patient health and their lives.”
Whole Biome’s Complete Biome Test is able to generate microbiome profiles with strain-level resolution at a low cost, enabling researchers and physicians to more rapidly conduct large-scale studies and produce effective microbiome diagnostics to help predict, treat and prevent life-threatening issues. [...]
ROCHESTER, Minn. — Mayo Clinic announces the launch of CANCP, a new gene panel cancer test to help tailor chemotherapy to the individual patient based on the unique genomic signature of the patient’s tumor. CANCP, an abbreviation for Solid Tumor Targeted Cancer Gene Panel by Next-Generation Sequencing, scans specific regions in 50 genes known to affect tumor growth and response to chemotherapy. The test is now available to Mayo Clinic patients and to providers worldwide through Mayo Medical Laboratories.
“Every patient’s cancer is different, and oncology is moving away from treating cancer based on its location in the body in favor of selecting the best medication for the individual patient based on molecular changes in the tumor,” says Axel Grothey, M.D., a Mayo Clinic oncologist who orders CANCP on selected tumors. “This test helps providers identify such molecular changes without infusing irrelevant details from genes that we know will not affect our choice of medications.” [...]
ROCHESTER, Minn. — Friday, April 25, is National DNA Day, the date which commemorates completion of the Human Genome Project, the national effort to identify and decode all 6 billion letters in human DNA. Since that time, medical researchers and practitioners have found new ways to apply genomics for everyone who needs healing, and thanks to staggering technological advancements and next-generation sequencing, the cost to sequence a patient’s genome has decreased from $3 billion for the first human genome in 2003 to approximately $1,500.
MEDIA: Gianrico Farrugia, M.D., director of the Mayo Clinic Center for Individualized Medicine, is available for interviews and background about the future of genomic medicine, as well as information about the latest practices and transformative clinical trials. To interview Dr. Farrugia contact Sam Smith, Mayo Clinic Public Affairs, 507-284-5005, firstname.lastname@example.org
Watch video on genome sequencing: